Atypical hemolytic-uremic syndrome(a HUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy(TMA). Renal involvement and progression to end-stage renal disease are common in untreated ...Atypical hemolytic-uremic syndrome(a HUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy(TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor Ⅰ(CFI) mutation. Eculizumab was initiated after 3 mo of presentation, continued for 9 mo, and stopped because of sustained hematologic remission, steady renal function, and cost issues. Despite this, the patient continued to be in hematologic remission and showed signs of renal recovery, and peritoneal dialysis was stopped 32 mo after initiation. We report a case of a HUS due to CFI mutation, which, to the best of our knowledge, has not been reported before in Saudi Arabia. Our case illustrates the challenges related to the diagnosis and management of this condition, in which a high index of suspicion and prompt treatment are usually necessary.展开更多
The DNA sequence encoding the chicken＇s insulin-like growth factor Ⅰ （IGF-Ⅰ） was amplified with the reverse transcription polymerase chain reaction （RT-PCR）, which was then cloned into vector pMD18-T and sequen...The DNA sequence encoding the chicken＇s insulin-like growth factor Ⅰ （IGF-Ⅰ） was amplified with the reverse transcription polymerase chain reaction （RT-PCR）, which was then cloned into vector pMD18-T and sequenced. The sequencing result showed that there was 100% homology among the documented sequences and the sequence reported in this article, which was successfully inserted into the expressing plasmid pRLC and was highly expressed in E.coli. The Tricine-SDS- PAGE result showed that the cloned recombinant protein was expressed in the form of inclusion bodies in the E.coli cell with molecular weight of 7.6 kD and was amount to 23% of the whole protein in the E.coli cell. Western blotting indicated that recombinant protein had the antigenicity of IGF- Ⅰ. The inclusion bodies were subsequently dissolved in 7 M guanidine chloride and renatured with dilution in refolding buffer containing 0.5 M arginine. To obtain pure protein, the renatured chicken IGF- Ⅰ was desalting by Hiprep 26/10 and purified by Hiprep Sephacryl S-200 chromatography. The biological activities of IGF- Ⅰ product were assayed in NIH 3T3 cells and osteoblastic cells of embryonic chicken by using MTT method. The results show that the expressed IGF- Ⅰ can obviously stimulate NIH3T3 cells and osteoblastic cells to proliferate at the concentration ranging from 100, 200, 400 to 800 ng mL^-1, suggesting that the protein has its biological activities.展开更多
文摘Atypical hemolytic-uremic syndrome(a HUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy(TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor Ⅰ(CFI) mutation. Eculizumab was initiated after 3 mo of presentation, continued for 9 mo, and stopped because of sustained hematologic remission, steady renal function, and cost issues. Despite this, the patient continued to be in hematologic remission and showed signs of renal recovery, and peritoneal dialysis was stopped 32 mo after initiation. We report a case of a HUS due to CFI mutation, which, to the best of our knowledge, has not been reported before in Saudi Arabia. Our case illustrates the challenges related to the diagnosis and management of this condition, in which a high index of suspicion and prompt treatment are usually necessary.
基金This work was supported by the National Natural Science Foundation of China(30270998) Natural Science Foundation of Jiangsu Province,China(Q200443).
文摘The DNA sequence encoding the chicken＇s insulin-like growth factor Ⅰ （IGF-Ⅰ） was amplified with the reverse transcription polymerase chain reaction （RT-PCR）, which was then cloned into vector pMD18-T and sequenced. The sequencing result showed that there was 100% homology among the documented sequences and the sequence reported in this article, which was successfully inserted into the expressing plasmid pRLC and was highly expressed in E.coli. The Tricine-SDS- PAGE result showed that the cloned recombinant protein was expressed in the form of inclusion bodies in the E.coli cell with molecular weight of 7.6 kD and was amount to 23% of the whole protein in the E.coli cell. Western blotting indicated that recombinant protein had the antigenicity of IGF- Ⅰ. The inclusion bodies were subsequently dissolved in 7 M guanidine chloride and renatured with dilution in refolding buffer containing 0.5 M arginine. To obtain pure protein, the renatured chicken IGF- Ⅰ was desalting by Hiprep 26/10 and purified by Hiprep Sephacryl S-200 chromatography. The biological activities of IGF- Ⅰ product were assayed in NIH 3T3 cells and osteoblastic cells of embryonic chicken by using MTT method. The results show that the expressed IGF- Ⅰ can obviously stimulate NIH3T3 cells and osteoblastic cells to proliferate at the concentration ranging from 100, 200, 400 to 800 ng mL^-1, suggesting that the protein has its biological activities.
